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Cardiac surgery for a patient with familial lecithin: cholesterol acyltransferase deficiency
Tsukasa Miyatake1, Yoshiro Matsui, Makoto Koyama
1Department of Cardiovascular Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Insights
This case report details the first cardiac surgery in a patient with familial lecithin: cholesterol acyltransferase (LCAT) deficiency. The successful procedure involved mitral valve repair, highlighting a novel approach for this rare genetic disorder.
Area of Science:
- Cardiovascular Surgery
- Rare Genetic Diseases
- Metabolic Disorders
Background:
- Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is a rare inherited disorder.
- Clinical features include corneal opacity, hemolytic anemia, and renal failure.
- LCAT deficiency affects red blood cell integrity and platelet-activating factor metabolism.
Observation:
- A 62-year-old female with partial LCAT activity and no renal impairment underwent cardiac surgery.
- The surgery involved mitral valve repair, tricuspid valve annuloplasty, and left atrium plication under cardiopulmonary bypass.
- This represents the first reported instance of cardiac surgery in a patient with LCAT deficiency.
Findings:
- The patient tolerated cardiopulmonary bypass and surgical repair.
- Partial LCAT activity may influence disease presentation and surgical risk.
- No immediate post-operative renal complications were observed.
Implications:
- This case establishes the feasibility of cardiac surgery in select LCAT deficiency patients.
- Further research is needed to understand the perioperative management of LCAT deficiency.
- Sharing this experience may guide future interventions for rare metabolic and cardiovascular conditions.
Abstract:
A 62-year-old female with familial lecithin: cholesterol acyltransferase (LCAT) deficiency was subjected to cardiac surgery consisting of mitral valve repair, tricuspid valve annuloplasty, and left atrium plication, under cardiopulmonary bypass. Familial LCAT deficiency is a very rare disease with clinical features including corneal opacity, hemolytic anemia, and renal failure. Our patient manifests partial LCAT activity and no renal failure. Patients with LCAT deficiency have fragile red blood cells, renal dysfunction, and disturbed metabolism of platelet-activating factor. To date, no record of cardiac surgery on patients with LCAT deficiency has been reported. Thus, we present the result of this experience to share what we learned about this complicated and rare disease.
